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Article

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

European journal of human genetics : EJHG - 1 Aug 2011

Laine C M, Chung B D, Susic M, Prescott T, Semler O, Fiskerstrand T, D'Eufemia P, Castori M, Pekkinen M, Sochett E, Cole W G, Netzer C, Mäkitie O

Abstract excerpt

Osteoporosis-pseudoglioma sydrome (OPPG) is an autosomal recessive disorder with early-onset severe osteoporosis and blindness, caused by biallelic loss-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Heterozygous carriers exhibit a milder bone phenotype. Only a few splice mutations in LRP5 have been published. We present clinical and genetic data for four patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21407258
DOI: 10.1038/ejhg.2011.42
PMCID: PMC3172925

Genes

LRP5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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